Screening breast, ovarian cancer gene mutations other than BRCA1/2 impact

Once more is known about all of these genes, there may come a day when genetic testing becomes a broad standard of care for all people, starting with a test conducted on newborns, Lichtenfeld said. According to new results, for some women these additional tests could change their clinical management. For most (52%) of these 63 mutation-positive patients, additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone would be considered.

Several of the authors of the new paper disclosed that they receive research funding, consult for or are employed by genetic testing companies like Myriad Genetics and Invitae Corporation.

“Researchers have found that tests for multiple * a class=”glink tt_basic” href=”/page_454935.asp” rel=”*page.asp?obj_id=454935&cAct=SIMP” *breast and * a class=”glink tt_basic” href=”/page_454953.asp” rel=”*page.asp?obj_id=454953&cAct=SIMP” *ovarian cancer risk * a class=”glink tt_basic” href=”/page_1687.asp” rel=”*page.asp?obj_id=1687&cAct=SIMP” *genes can be used to inform treatment decisions for women with personal or family history for such cancers. The participants were referred for hereditary breast or ovarian cancer gene testing, even though they had already tested negative for BRCA mutations.

But not much is known about the cancer risk posed by all these other genes, the cancer experts said. Most of the mutations (92 percent) among these and an additional 23 mutation-positive individuals enrolled from the clinic were consistent with the spectrum of cancer(s) observed in the patient or family, indicating clinical significance. In addition, risk calculation for the presence of these mutations recommended that close female family members for 72 percent of these cases should also be screened. Of those 40 women, 26 had mutations carrying low to moderate risk of breast or ovarian cancer, eight had mutations associated with Lynch syndrome, which increases colon and ovarian cancer risk, and three had high-risk breast cancer genes.

And to support multigene testing, researchers pointed out that it is not more expensive than the BRCA mutation testing on its own, therefore, a reasonable option that could save more lives.

“Yet thousands of women and their physicians are ignoring this advice, ordering a wide selection of multiplex tests daily”, Swisher writes.

Leif W. Ellisen, M.D., Ph.D., of Massachusetts General Hospital Cancer Center, Boston, and coauthors wanted to determine how often multigene panel testing would identify mutations that warranted some clinical action among women appropriately tested but lacking BRCA1 and BRCA2 mutations.